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Gene | MAP2K1 |
Variant | L115P |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 L115P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115P confers a gain of function on the kinase activity of the Map2k1 protein, as demonstrated by increased autophosphorylation in cell culture (PMID: 29753091) and increased basal kinase activity in an in vitro assay (PMID: 12370306), and is also associated with decreased binding and resistance to Mek inhibitors (PMID: 12370306, PMID: 19915144, PMID: 26399658). |
Associated Drug Resistance | Y |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L115P |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436798T>C |
cDNA | c.344T>C |
Protein | p.L115P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755.3 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
NM_002755 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MAP2K1 L115P | gain of function | |
BRAF V600E MAP2K1 L115P |